Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

A ‘Down Syndrome critical region’ (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6–8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We prop...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Pelleri, Maria Chiara, Cicchini, Elena, Locatelli, Chiara, Vitale, Lorenza, Caracausi, Maria, Piovesan, Allison, Rocca, Alessandro, Poletti, Giulia, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2016
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5181629/
https://ncbi.nlm.nih.gov/pubmed/27106104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw116
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